Atypical Sotos syndrome caused by a novel splice site variant

Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue invo...

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Detalles Bibliográficos
Autores principales: Minatogawa, Mari, Tsuji, Taichi, Inaba, Mie, Kawakami, Noriaki, Mizuno, Seiji, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666520/
https://www.ncbi.nlm.nih.gov/pubmed/36379925
http://dx.doi.org/10.1038/s41439-022-00219-4
Descripción
Sumario:Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinical manifestations included severe connective tissue involvement, including joint hypermobility, progressive scoliosis, pectus deformity, and skin hyperextensibility; no overgrowth was observed.

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